Genetic Markers and Leukemia Survival: A New Tool for Medical Detectives
Tremendous strides have been made on both diagnostic and treatment fronts in the battle waged by medical research on leukemia. New treatment protocols and improved diagnostic tools have made early intervention both easier and more effective.
A recent Swedish study conducted by Dr. Ulf Thumberg and associates focused on variations, or polymorphisms, in certain genes identified with chronic lymphocytic leukemia (CLL). This type of leukemia is the most common form of the disease that occurs in adults.
The course that the illness takes can either be passive, where the patient may survive for years with little or no medical intervention, or aggressive, which results in rapid decline and early morbidity. Thumberg's group felt that one receptor gene, P2X7, might be an indicator of which path the cancer would take.
The study covered a twenty-year period between 1981 and 2001 and involved tumor samples from 118 men and 52 women. This group was followed for survival rates and compared to a control group of 200 individuals who did not have the cancer. Mutations identified as 1513A/C and 1513A/A in the P2X7 gene were correlated with mortality rates and then compared with the control group.
Thumberg found that the single polymorphism of 1513A/C directly related to survival rates in patients diagnosed with chronic lymphocytic leukemia. Individuals who had the mutation from 1513A to 1513C actually lived almost four and a half years longer than those who did not have the polymorphism. These changes in the P2X7 receptor gene could well be a way of forecasting which patients may require a more aggressive medical intervention in the early stages of the disease to stem the microbiological onslaught of the cancer.
Clinical tools such as those used in the Thumberg study are clearly establishing their importance in the early diagnosis and treatment of leukemia. While much of the research is experimental and involves small groups, the methodologies being developed are exciting and inspiring. New clinical trials will expand on this research and provide hope for those at risk.
Resource
Thumberg, U., Tobin, G., Johnson, A., Solderberg, O., Padyukov, L., Hultdin, M., Klareskog, , L., et al. (2002, December 14). Polymorphism in the P2x7 receptor gene and survival in chronic lymphocytic leukemia [electronic version]. The Lancet, 360(9349), 1935-1939.
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